Variant report

Variant	rs72843752
Chromosome Location	chr17:59974217-59974218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr17:59973772-59974863	MCF-7	breast:	n/a	n/a
2	E2F4	chr17:59974113-59974310	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF217	chr17:59973803-59974462	MCF-7	breast:	n/a	n/a
4	REST	chr17:59973586-59975754	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59972401..59976325-chr17:60003389..60005361,4	MCF-7	breast:
2	chr17:59972585..59974357-chr17:59975555..59977763,3	K562	blood:
3	chr17:59972429..59974956-chr17:60189280..60191200,2	MCF-7	breast:
4	chr17:59972851..59975508-chr20:54152738..54155115,2	MCF-7	breast:
5	chr17:59972671..59974357-chr17:59976197..59977763,2	K562	blood:
6	chr17:57921089..57923599-chr17:59972830..59974384,2	MCF-7	breast:

No data

Variant related genes	Relation type
INTS2	TF binding region
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10515212	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11652477	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11654581	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11656805	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452044	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12452396	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17542001	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17614124	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2066962	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4968453	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56267713	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294609	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56391142	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58426748	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7223607	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843728	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843731	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843735	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075585	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076727	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8076746	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941400-59975000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
4	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
5	chr17:59941600-59979600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:59941600-59987600	Weak transcription	Right Ventricle	heart
7	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
8	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
9	chr17:59941800-59979200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:59941800-59979200	Weak transcription	Brain Angular Gyrus	brain
11	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:59943600-59989600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:59946600-59989200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:59947400-59977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:59948000-59981800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:59948200-59980600	Weak transcription	HMEC	breast
17	chr17:59948200-59986800	Weak transcription	Fetal Kidney	kidney
18	chr17:59950000-59979200	Weak transcription	NHLF	lung
19	chr17:59950800-59981600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:59951400-59992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:59951600-59989600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:59952800-59981400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:59953800-59985600	Weak transcription	Small Intestine	intestine
24	chr17:59954400-60003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:59954600-59984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:59955200-59979600	Weak transcription	HSMMtube	muscle
27	chr17:59958000-59987600	Weak transcription	Esophagus	oesophagus
28	chr17:59959000-59996800	Weak transcription	Gastric	stomach
29	chr17:59959600-60003600	Weak transcription	Fetal Heart	heart
30	chr17:59962000-59977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:59962400-59979400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:59963400-59989600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:59963600-59974800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:59963600-59975400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:59963800-59989600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:59964000-59975000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:59964000-59983200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr17:59964800-59979200	Weak transcription	Hela-S3	cervix
39	chr17:59965000-59977600	Weak transcription	NHEK	skin
40	chr17:59965200-59976600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:59965600-59981400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:59966000-59978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:59966000-59984600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr17:59966000-60004200	Weak transcription	Psoas Muscle	Psoas
45	chr17:59966200-59981600	Weak transcription	Thymus	Thymus
46	chr17:59966200-59982400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:59966200-59983000	Weak transcription	Spleen	Spleen
48	chr17:59966200-59987600	Weak transcription	Ovary	ovary
49	chr17:59966200-59998000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr17:59966400-59976800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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